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AGL Gene

protein-coding GIFtS: 66

GC01P100088

amylo-1, 6-glucosidase, 4-alpha-glucanotransferase
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
GDE ^², ³, ⁵
OTTHUMP00000012500 ^²
OTTHUMP00000012501 ^²
OTTHUMP00000012502 ^²
OTTHUMP00000012503 ^²
OTTHUMP00000012504 ^²
OTTHUMP00000012505 ^²

Descriptions
Glycogen debrancher ^³
amylo-1, 6-glucosidase, 4-alpha-glucanotransferase ^²
amylo-1,6-glucosidase, 4-alpha-glucanotransferase ^²
glycogen debranching enzyme ^²

External Ids
HGNC: 321¹
Entrez Gene: 178²
UniProtKB: P35573³
Ensembl: ENSG00000162688⁷

Search outside databases for aliases for AGL gene

Previous GC identifers: GC01P101113 GC01P099441 GC01P099606 GC01P099778 GC01P100027

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for AGL:

This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This

enzyme has two independent catalytic activities which occur at different sites on the protein: a

4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are

associated with glycogen storage disease although a wide range of enzymatic and clinical

variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced

transcripts encoding different isoforms have been described. [provided by RefSeq]

UniProtKB/Swiss-Prot: GDE_HUMAN, P35573

Function: Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan

4-alpha-D-glycosyltransferase and amylo-1,6-glucosidase in glycogen degradation

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the AGL gene

Entrez Gene cytogenetic band: 1p21 Ensembl cytogenetic band: 1p21.2 HGNC cytogenetic band: 1p21

AGL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P100088: (about GC identifiers)

Start:	100,088,228 bp from pter
End:	100,162,167 bp from pter
Size:	73,940 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000001.9 NT_032977.8

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: GDE_HUMAN, P35573 (See protein sequence)

Recommended Name: Glycogen debranching enzyme

Size: 1532 amino acids; 174764 Da

Subunit: Monomer

Secondary accessions: A6NCX7 A6NEK2 P78354 P78544 Q59H92 Q6AZ90 Q9UF08

Alternative splicing: 3 isoforms: P35573-1 P35573-2 P35573-3

Post-translational modifications:

The N-terminus is blocked¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (6 alternative transcripts):

NP_000019.2 NP_000633.2 NP_000634.2 NP_000635.2 NP_000636.2 NP_000637.2

ENSEMBL proteins:

ENSP00000309020 ENSP00000355106 ENSP00000294724 ENSP00000359184 ENSP00000359182 ENSP00000354971

ENSP00000359180 ENSP00000354635

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (AGL)
	Human Recombinant Proteins from Abnova (AGL)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	EXP	9691087
GO:0043033	isoamylase complex	TAS	1374391

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Antibodies for AGL:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for AGL
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (AGL), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (AGL)
	Novus Biologicals Antibodies for AGL

Assays for AGL:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P35573

ProtoNet protein and cluster: P35573

UniProtKB/Swiss-Prot: GDE_HUMAN, P35573

Similarity: Belongs to the glycogen debranching enzyme family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (AGL)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 6): NM_000028

Applied Biosystems Silencer® siRNAs for AGL

Sigma-Aldrich siRNA for AGL

Sigma-Aldrich shRNA for AGL

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for AGL
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 6): NM_000028
Myc/DDK tagged cDNA clones in CMV expression vector (see all 6): NM_000028
untagged cDNA clones in CMV expression vector (see all 6): NM_000028

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000642

UniProtKB/Swiss-Prot: GDE_HUMAN, P35573

Function: Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan

4-alpha-D-glycosyltransferase and amylo-1,6-glucosidase in glycogen degradation

Catalytic activity: Transfers a segment of a (1->4)-alpha-D-glucan to a new position in an

acceptor, which may be glucose or a (1->4)-alpha-D-glucan

Catalytic activity: Hydrolysis of (1->6)-alpha-D-glucosidic branch linkages in glycogen

phosphorylase limit dextrin

Genatlas biochemistry entry for AGL:

amylo-1,6-glucosidase (4-alpha-glucantransferase),debranching enzyme,160kDa,glycogen catabolism)

with liver,muscle specific and four further minor alternatively spliced isoforms

5 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004134	4-alpha-glucanotransferase activity	IEA	--
GO:0004135	amylo-alpha-1,6-glucosidase activity	IEA	--
GO:0016757	transferase activity, transferring glycosyl groups	IEA	--
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA	--
GO:0043169	cation binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for AGL (Your Favorite Gene powered by Ingenuity)

Starch and Sucrose Metabolism

GeneDecks AGL for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for AGL

5/19 Interacting proteins for AGL (ENSP00000309020³) via UniProtKB, MINT, and/or STRING (see all 19 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NHLRC1	ENSP00000345464³	STRING (score=.976)
GAA	ENSP00000305692³	STRING (score=.963)
GANC	ENSP00000326227³	STRING (score=.963)
MGAM	ENSP00000316431³	STRING (score=.962)
PYGB	ENSP00000216962³	STRING (score=.953)

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3 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005975	carbohydrate metabolic process	IEA	--
GO:0005978	glycogen biosynthetic process	IEA	--
GO:0008152	metabolic process	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Compounds for AGL available from Tocris Bioscience

Compound	Action	CAS number
1-Deoxynojirimycin	Glucosidase I and II inhibitor	[19130-96-2]

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2 Novoseek chemical compound relationships for AGL gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
glycogen	86.23	197	9584265 (4), 19299494 (3), 8843344 (3), 8954797 (3) (see all 51)
glucose	18.68	2	8611536 (1), 1991122 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (AGL)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 6): NM_000028

Sigma-Aldrich siRNA for AGL

Sigma-Aldrich shRNA for AGL

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000028 NM_000642 NM_000643 NM_000644 NM_000645 NM_000646

REFSEQ mRNAs for AGL gene (6 alternative transcripts):

NM_000028.2 NM_000642.2 NM_000643.2 NM_000644.2 NM_000645.2 NM_000646.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000028 NM_000642 NM_000643 NM_000644 NM_000645 NM_000646

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 6): NM_000028
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 6): NM_000028
                                 untagged cDNA clones in CMV expression vector (see all 6): NM_000028

Additional cDNA sequence:

AB208867.1 AK130308.1 BC020705.1 BC057220.1 BC078663.1 M85168.1 U84007.1 U84008.1

U84009.1 U84010.1 U84011.1

8 DOTS entries:

DT.95276494 DT.92430323 DT.100793896 DT.92430324 DT.444749 DT.100025294 DT.100793897 DT.121379454

24/170 AceView cDNA sequences (see all 170 ):

AL700198 CA945170 BQ217878 BM806841 T27720 BU595048 BQ045144 CF147446

CA390727 AL597963 BC020705 AV682868 BX499961 BC078663 BQ022584 C00487

BX482459 AA476828 AU116995 AI355368 AL596579 AK130308 BX498417 AW182611

highest scoring ESTs for AGL:

U84007 U84011 AA017181 AA018377 AA233696 AA247620 AA337399 AA337598 AA443773 AA449229

Unigene Cluster for AGL:

Amylo-1, 6-glucosidase, 4-alpha-glucanotransferase

Hs.904 [show with all ESTs]

Unigene Representative Sequence: NM_000028

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for AGL (see all 8 )

ExUns:	1	^	2	^	3	^	4	^	5	^	6a	·	6b	^	7a	·	7b	^	8	^	9	^	10	^	11	^	12	^	13a	·	13b	^	14	^	15a	·	15b	^	16a	·	16b	^	17a	·	17b	·	17c	^	18	^	19	^
SP1:
SP2:					-
SP3:
SP4:
SP5:			-		-

ExUns:	20	^	21	^	22
SP1:
SP2:
SP3:
SP4:
SP5:

About this scheme

ECgene alternative splicing isoforms for AGL

8 Ensembl transcripts including schematic representations:

ENST00000311030 ENST00000361915 ENST00000294724 ENST00000370165 ENST00000370163 ENST00000361302

ENST00000370161 ENST00000361522

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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AGL expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for AGL

¹ / ² / ³

4 probe-sets matching AGL gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
38253_at²^{, 3}	U95-A	1	1.00	1.00	0.98	1.12	U84011	1.00	1.00	1.00	1
38252_s_at²^{, 3}	U95-A	1	1.00	1.00	0.99	0.88	U84007	1.00	1.00	1.00	1
203566_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000645	0.60	1.00	0.82	1
203566_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks AGL for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TGAATTGTGA

SOURCE GeneReport for Unigene cluster: Hs.904
Expression variation in blood from EXPOLDB for AGL
UniProtKB/Swiss-Prot: GDE_HUMAN, P35573
Tissue specificity: Liver, kidney and lymphoblastoid cells express predominantly isoform 1; whereas
muscle and heart express not only isoform 1, but also muscle-specific isoform mRNAs (isoforms 2, 3
and 4). Isoforms 5 and 6 are present in both liver and muscle

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for AGL gene from 5/17 species (see all 17 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	AGL¹	--	amylo-1, 6-glucosidase, 4-alpha-glucanotransferase	93.06(n) 93.86(a)	479931 XM_537057.2 XP_537057.1
chimpanzee (Pan troglodytes)	AGL¹	--	amylo-1, 6-glucosidase, 4-alpha-glucanotransferase	99.7(n) 99.8(a)	469392 XM_524777.2 XP_524777.1
cow (Bos taurus)	AGL¹	--	amylo-1, 6-glucosidase, 4-alpha-glucanotransferase	91.73(n) 92.56(a)	517397 XM_595566.3 XP_595566.3
rat (Rattus norvegicus)	Agl¹	--	amylo-1,6-glucosidase, 4-alpha-glucanotransferase	87.18(n) 92.23(a)	362029 XM_342331.3 XP_342332.3
mouse (Mus musculus)	Agl^{1, 5}	3⁵	amylo-1,6-glucosidase, 4-alpha-glucanotransferase^{1, 5}	86.16(n)¹ 91.91(a)¹	77559¹ NM_001081326.1¹ NP_001074795.1¹ AA681807⁵ AI850929⁵ (see all 19)

About this table Species with no ortholog for AGL

ENSEMBL Gene Tree for AGL

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/471 NCBI SNPs in AGL are shown (see all 471 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 184)

AB	SNP ID	Valid	Chr 1 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs494740^1,2	A,C,F,H,O	100098889(-)	`cttgtA/Gagcca`	6	--	int¹ ng5¹		6	EA NA EU WA	464
	rs1804809^1,2	A,C,F,H,O	100161091(+)	`AATTAC/AAGAAG`	6	--	ut3¹ trp³		16	EA NA EU WA	2840
	rs1804808^1,2	A,C,F,H,O	100160067(+)	`GAAAAT/GAAAAA`	6	--	ut3¹ trp³		13	EA MN NA EU WA	2624
	rs2307130^1,2	A,C,F,H	100089177(-)	`GCTTCT/CAGAGG`	5	--	ut5¹ int¹ spl³ ese³		15	EA NA EU WA	2728
	rs492032^1,2	A,C,F,H	100098609(-)	`AATACG/AAAAAT`	6	--	int¹ ng5¹		2	EA	174
	rs2035958^1,2	A,C,F,H	100098325(-)	`AAAAGA/TTTTCA`	6	--	int¹ ng5¹		4	EU EA WA	414
	rs3766601^1,2	A,C,F,H	100160823(+)	`ATTTAT/CATGAG`	6	--	ut3¹ ese³		12	EA NA EU WA	2422
	rs3766600^1,2	A,C,F,H	100160527(+)	`ATTGTC/TGGTCA`	6	--	ut3¹		17	EA NA EU WA	2570
	rs494626^1,2	A,C,F,H	100098846(-)	`TCCCTG/ATGCTT`	6	--	int¹ ng5¹		8	EU EA WA NA	776
	rs3753486^1,2	C,F,H	100087426(+)	`TTGGAC/TCTACA`	5	--	ng5¹		8	EU EA WA	838

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HapMap Linkage Disequilibrium images for AGL (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 610860 disorders: 232400 232400

UniProtKB/Swiss-Prot: GDE_HUMAN, P35573

Defects in AGL are the cause of glycogen storage disease type 3 (GSD3) [MIM:232400]; also

known as Forbes disease. GSD3 is a metabolic disorder associated with an accumulation of abnormal

glycogen with short outer chains. Three GSD3 types are recognized: GSD type 3A patients lack

glycogen debrancher enzyme activity in both liver and muscle, while GSD type 3B patients are

enzyme-deficient in liver only. In rare cases, selective loss of only 1 of the 2 debranching

activities, glucosidase or transferase, results in GSD type 3C or type 3D, respectively. GSD3 is

clinically characterized by hepatomegaly, hypoglycemia, short stature, and variable myopathy

8 Novoseek disease relationships for AGL gene

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
glycogen storage disease type iii	98.91	64	15542399 (2), 16705713 (2), 17047887 (2), 19299494 (2) (see all 32)
glycogen storage disease	89.78	9	11378828 (1), 9584265 (1), 17196294 (1), 10982190 (1) (see all 7)
hepatomegaly	66.16	5	8990006 (1), 18717245 (1), 17895567 (1)
enzyme deficiency	64.62	1	9332391 (1)
hypoglycemia	59.98	5	8990006 (1), 18717245 (1), 17895567 (1)
myopathy	55.47	1	1580445 (1)
cardiomyopathy	48.05	4	17895567 (2), 1580445 (1), 18717245 (1)
liver cirrhosis	26.88	1	8553356 (1)

About this table

Human Gene Mutation Database: AGL
Genetic Association Database: AGL
Human Genome Epidemiology Navigator: AGL (1 document)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/68 PubMed articles for AGL gene (see all 68 ):

Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. (PubMed id 8755644)^{1, 3, 6} Shen J....Chen Y.T. (1996)
Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region. (PubMed id 8954797)^{1, 3, 4} Bao Y.... Chen Y.-T. (1996)
Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA: identification of multiple tissue-specific isoforms. (PubMed id 9332391)^{1, 3, 4} Bao Y.... Chen Y.-T. (1997)
A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa. (PubMed id 8990006)^{1, 3, 6} Shen J....Chen Y.T. (1997)
Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands. (PubMed id 11378828)^{1, 3, 6} Santer R....Schaub J. (2001)
Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan. (PubMed id 10982190)^{1, 3, 4} Okubo M.... Murase T. (2000)
A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III. (PubMed id 8702417)^{1, 3, 6} Okubo M....Murase T. (1996)
Assignment of the human glycogen debrancher gene to chromosome 1p21. (PubMed id 1505983)^{1, 2, 3} Yang-Feng T.L....Kao F.T. (1992)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)
Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient. (PubMed id 10571954)^{3, 4} Okubo M....Murase T. (1999)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 178	HGNC: 321	AceView: AGL	Ensembl:ENSG00000162688	euGenes: HUgn178
ECgene: AGL	H-InvDB: AGL

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
GeneReviews	http://www.genetests.org/query?gene=AGL

Licensable Technologies for AGL
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for AGL:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for AGL-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for AGL		Antibodies for AGL
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for AGL		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
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	Recombinant Proteins (AGL)
	Antibodies (AGL)
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	Recombinant Proteins (AGL)
	Antibodies (AGL)

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Antibodies for AGL

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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AGL Gene at Home site.
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AGL Gene

protein-coding GIFtS: 66

Aliases &
Descriptions
for AGL

Summaries
for AGL

Genomic Location
for AGL

Proteins
for AGL

Protein Domains/
Families
for AGL

Gene Function
for AGL

Pathways & Interactions
for AGL

Drugs & Compounds
for AGL

Transcripts
for AGL

Expression
for AGL

Orthologs
for AGL

Paralogs
for AGL

SNPs/Variants
for AGL

Disorders & Mutations
for AGL

Medical News
for AGL

Publications
for AGL

Search for AGL

Genome Databases showing AGL

Other Databases showing AGL

Specialized Databases showing AGL

Licensable Technologies
for AGL

Services
for AGL

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

AGL Gene

protein-coding GIFtS: 66

Aliases & Descriptionsfor AGL

Summariesfor AGL

Genomic Locationfor AGL

Proteinsfor AGL

Protein Domains/Familiesfor AGL

Gene Functionfor AGL

Pathways & Interactionsfor AGL

Drugs & Compoundsfor AGL

Transcriptsfor AGL

Expression for AGL

Orthologsfor AGL

Paralogsfor AGL

SNPs/Variantsfor AGL

Disorders & Mutationsfor AGL

Medical Newsfor AGL

Publicationsfor AGL

Search for AGL

Genome Databases showing AGL

Other Databases showing AGL

Specialized Databases showing AGL

Licensable Technologiesfor AGL

Servicesfor AGL

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for AGL

Summaries
for AGL

Genomic Location
for AGL

Proteins
for AGL

Protein Domains/
Families
for AGL

Gene Function
for AGL

Pathways & Interactions
for AGL

Drugs & Compounds
for AGL

Transcripts
for AGL

Expression
for AGL

Orthologs
for AGL

Paralogs
for AGL

SNPs/Variants
for AGL

Disorders & Mutations
for AGL

Medical News
for AGL

Publications
for AGL

Licensable Technologies
for AGL

Services
for AGL